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Huntington's disease is an inherited neurodegenerative disorder. It is passed from parent to child in an autosomal dominant manner (Berkon, pg. 1493), meaning you need only one copy of the gene to inherit the disease. This is in contrast to an autosomal recessive disorder which requires two altered genes to inherit the disorder or an altered gene from each parent (Hayden, pg. 11). If you have the gene and live long enough, you will eventually develop HD and each of your children has a 50 % chance of inheriting therese.
If you do not have the HD gene, you can not pass it on to your children and theban not pass it on to their children. There are no carriers for HD. (Aylward, pg. 252) The HD gene is present from birth, but the age of onset is usually in the third or fourth decade of life (Aylward, pg. 254). While this is the most common time for symptoms to appear, there have been reports of onset as young as 2 and as old as 80. Symptoms begin gradually and progress over time. It is important to remember that noone dies of HD but rather with HD. Because of this, quality care and attention to changes the affected individuals condition can often prevent or minimize complications and increase quality of life (Berkon, pg. 1495).
Huntington's disease affects three main areas of function: motor, mood, and cognition. Motor disturbances can fall into two categories: too much movement and too little movement. Chorea (involuntary dance-like movements) can affect any part of theory. It is commonly seen as restless, wriggling movements of the fingers or toes in the early stages of the disease.
Movements tend to become larger over time and can involve the face, arms, trunk and legs. Chorea may appear more pronounced when an individuals under stress or experiencing an extreme of emotion. (Goodman, pg. 64) It tends to lessen in the later stages of HD. Rigidity or muscle stiffness and slowness may also be present. This is more common when onset occurs in childhood or adolescence and also income advanced disease. Both chorea and rigidity can interfere with mobility and coordination. Changes in mood are often first noticed by family members. (Hayden, pg. 34) Depression is quite common and may be present before onset of other symptoms.
Anxiety, irritability and temper outbursts, mania and psychosis are other syndromes that can be seen. Cognition (the mental process characterized by thinking, learning and judging) is affected early in the disease process and worsens over time. Individuals may notice difficulty with memory, calculation, verbal fluency and judgment. (Berkon, pg. 1494) Icon be especially challenging for the person with HD to attempt to learn a new task. How Is Huntington's Disease Diagnosed?
Diagnosis of HD relies heavily on a thorough neurological examination and positive family history. Radiological studies such as CT or MRI scans can further substantiate the diagnosis. Laboratory tests may be used to rule out other conditions that can appear similar to HD. (Goodman, pg. 102) The Huntington s Gene and Genetic Testing The gene responsible for HD was located on chromosome 4 in 1993. It is the equivalent of a genetic stutter meaning that the defect is due to an abnormally long repeated sequence of a certain segment of DNA. (Hayden, pg. 78) With the isolation ofthe gene, testing for the presence of the gene in unaffected individuals became a possibility. This is called predictive testing and is done by analysis of DNA obtained from a blood sample. (Berkon, pg. 1495) It is important to remember that even if you have the gene, the predictive test will not tell you when you will begin to display symptoms. This remains a clinical diagnosis based on an examination by a skilled neurologist. (Hayden, pg. 56) Certainly not everyone at risk wishes to know their status in regards to the HDgene, and it remains a highly individualized choice.
There is no right or wrong decision. Persons interested in taking the test will work extensively with a trained counselor, psychologist or psychiatrist to explore all the implications of the test results. (Goodman, pg. 105) Individuals who are considered to be depressed or unable to accept the potential test result would experience a delay in the testing process until such issues were resolved. If you decide not to pursue testing yourself, banking or storage of your DNA is strongly encouraged. (Hayden, pg. 102) DNA may be stored indefinitely and is then available to other family members for future use. Your stored sample may be the necessary link in the accurate testing of your offspring. (Goodman, pg. 129) Banking of your DNA is one of the greatest gifts you can leave your children and grandchildren. Genetic Testing A variety of genetic testing options may be discussed with the genetics personnel, or personnel familiar with genetic testing, during the a visit depending upon information specific to your family and your individual situation. (Hayden, pg. 109) These options might include direct detection of the HD gene on an affected individual and subsequent testing of relatives. The genetic testing of an individuals DNA can be obtained from abroad sample.
Tissue samples that have been stored or donated for research from extended family members may also be useful in genetic testing. (Aylward, pg. 254) Most genetic testing and analysis should be done before a family member begins a pregnancy. The decision by an individual to undergo genetic testing is an intensely personal decision and can be made only by that person. (Berkon, pg. 1495) Friends and family, no matter how fervent their wishes for the person to be tested, can not make that decision for that competent adult. At this time the HDSA (Huntington's Disease Society of America) in conjunction with researchers and clinicians involved in caring for people and families with Huntingtons disease does not support the testing of minors who are at risk for the development of Huntington's disease. (Goodman, pg. 203) Huntington disease is a genetic disorder of the central nervous system with symptoms usually appearing in adults within the third or fourth decade of life, although symptoms can occur in individuals younger or older than this. (Liss, pg. 21) Within these family, the symptoms vary both in their rate of progression and in the age of onset. Symptoms may include involuntary movements and loss of motor control. (Aylward, pg. 256) In addition, personality changes may occur, with loss of memory and decreased mental capacity.
Symptoms in individuals, as well as confirmation of diagnosis in other family members, are used to determine the diagnosis. Huntington disease is inherited as autosomal dominant condition. The human body contains 100 trillion cells. A nucleus is inside each human cell (except red blood cells. Each nucleus contains 46 chromosome arranged in 23 pairs. One chromosome of every pair is from each parent.
The chromosome are filled from each tightly coiled strands of DNA. Genes are segments of DNA that contain instructions take proteins and other building blocks of life. Each of us has 46 chromosomes which come in pairs, one member of the pair comes from each parent. Therefore, 23 chromosomes are from the mother, and 23 chromosomes are from the father.
There are two types of chromosomes: 1) autosomal chromosomes, which are the first 22 pairs, and 2) sex chromosomes, which are the 23 repair (the 23 rd pair in females consists of two X-chromosomes, and the 23 rd pair images consists of an X-chromosome and a Y-chromosome). (Goodman, pg. 206) Since Huntington disease is autosomal dominant, this means the gene involved is on an autosomal chromosome (not one of the sex chromosomes) and recently has been localized on the fourth autosomal chromosome pair (the # 4 chromosome). (Hayden, pg. 116) In affected individuals, one gene of this gene pair (the HD gene) is not functioning correctly and expresses itself more strongly, or dominates, the other working gene. Since is not on one of the sex chromosomes, it can affect both males and females. Males and females have the same chance of having affected children. An affected parent passes either the HD gene or the other working gene to their off spring. (Aylward, pg. 255) There is a 50 % (1 in 2) chance at each pregnancy that acid of an affected parent will receive the gene for Huntington disease.
The age of onset, degree and type of clinical symptoms, as well as rate of progression varies with HD. During a clinic visit with a neurologist or geneticist, it may or may not be possible clinically determine whether an individual has the HD gene. (Lieblich, pg. 13) With increased age, and without symptoms, the likelihood of having the gene without evidence disease decreases, and the risk becomes less than 50 %. Therefore, the risk for passing the gene to children decreases. However, if symptoms begin, and a diagnosis is made, each child of an affected parent has a 50 % chance of having the Huntington disease gene. (Goodman, pg. 209) Information about the genetics of HD should be shared with children prior to their family planning so that they can receive the most current information. The gene for Huntington disease on the fourth chromosome has been characterized recently.
The chromosome is composed of genes, and each gene is composed of a string of molecules called nucleotides. The nucleotides are adenine (A), cytosine (C), guanine (G), and thymine (T). (Aylward, pg. 256 - 257) The gene is made up a series of three nucleotides which form the structure of DNA in the gene. Each general its own unique sequence of base pairs. In Huntington disease, the DNA sequence, CAG, is part of this sequence. (Tukamato, pg. 8) The sequence is duplicated in various individuals, from 11 up to 30 times in the general population. (Goodman, pg. 223) This duplication of the CAG segment is sometimes called a stutter. Individuals with Huntington disease may have from 38 to 100 repeated CAG segments.
It is not known how this repeated sequence causes Huntington disease, but research to develop therapist treat Huntington disease is ongoing. (Hayden, pg. 121) Behavioral Problems in Huntington's Disease Aggression (Hayden, pg. 134) As part of the sub-cortical dementia in Huntington's disease, a person with Huntingtons disease loses their ability to gait emotion. When confronted with the denial of their desire a person with Huntington's disease may respond with a temper tantrum instead of responding with a more polite and socially acceptable response why not? Aggression is a typical response in children and in some adults when their immediate desires are not met. This can be severely worsened in Huntington's disease by the persons inability to gait or control wide fluctuations in emotional response.
Just as they can rapidly escalate into severe anger and belligerence, they can also calm down remarkably faster than their caregivers. Understanding that this is part of the disease can help in learning how to regulate this behavior. Once a pattern of behavior is established it may become difficult to break. If you initially decline a request (e.
g. , to allow them to watch a television show), they respond angrily and then you give in to their original demand, you have taught them that being aggressive and belligerent allows them to accomplish their goals. Along the same line of teaching behaviors, if you constantly remind someone that they were inappropriate (e. g. , you were out of control) you may also be reinforcing the behavior. Try not to concentrate on talking about the detrimental behaviors, try to focus on the beneficial behaviors.
If you think that this sounds like a lesson in child rearing, you are correct. Children learn from everything that they see and do. So do adults, irregardless of whether they have Huntington's disease or not. By focusing on the inappropriate behaviors yuma actually be reinforcing them and de-emphasizing the desired behaviors.
When aggression reaches the point where you have a concern about harm to yourself, to the affected person or to others involved in the care of a person with Huntingtons disease, you must get professional help as soon as possible. Behavioralmodification techniques can work, but there are times when medications may be clearly needed in addition to other techniques. Health care providers with expertise in Huntingtons disease can be most helpful in this area. Irritability (Aylward, pg. 257) We all can become irritable if we are tired, cold, hungry, isolated in pain These are the basic necessities of life.
When these needs are met, then we can work towards other goals and aspirations. If someone with Huntington's disease is irritable, it is imperative that you try to figure out why. This is especially true when the disease has advanced to the point that communication is difficult. So, see if they might be hungry or thirsty, look to see if something may be causing pain or discomfort. If that fails there another things that should be considered. Apathy, withdrawal from activities, social isolation, changes in appetite and weight, wide mood swings are all components of depression. (Berkon, pg. 1496) About one out five adults in North America will develop at least one episode of clinical depression in their lifetime, making it the most common psychiatric disorder.
Depression can be caused by either a reaction to an external event (e. g. , death of someone who is close to you, finding out one is seriously ill) or endogenous (from within). Depression is frequently an initial manifestation of Huntington's disease. Depression can also occur inthe middle to later stages of Huntington's disease as a person is confronted with their diminished ability to do things and by social isolation.
As one patient put it; Why dont they come and visit me? Im not contagious. Depression can be treated in many ways including: being taken outside of the home for activities social contacts from others regular exercise bright sunlight (useful for seasonal affective disorder) (Aylward, pg. 257) Sometimes these efforts are not successful and psychotherapy and possibly medications may be needed. Depression should be aggressively treated in people with Huntingtons disease. Not only can depression be easily treated, but by treating it the quality of a persons life can be greatly improved. The consequences of not treating depression can include: worsening the depression, loss of contact with friends and family and the very real risk of suicide. (Liss, pg. 46) Obsessions and Compulsions (Tukamato, pg. 9 - 13) An obsession is a constant concern or worry about one or more things that may oral not be grounded in reality.
An example may be worrying that ones disability status may be taken away. While this may in some cases be a reality based worry, in most cases once disability is granted for Huntington's disease in the United States it is not taken away. A compulsion is a feeling of needing to perform a task over and over. Compulsions, like obsessions can be grounded in reality. (Lieblich, pg. 27) If you realize that your memory is not what it used to be, you may need to check to be certain that you have locked the door or turned off the stove. When obsessions or compulsions get to the point that they are consuming too much of ones time or they get to the point where the compulsion or obsession is in itself worrisome, something should be done. (Berkon, pg. 1497) Sometimes, calm rational discussions with the person can help them to confront the fear that has led to their obsession and allow them to cope. In the above example of disability, the caregiver aswell the health care provider can help to reassure the person with Huntington's disease that there disability status is not in jeopardy.
A compulsive behavior in a patient who has trouble communicating can be difficult. In the case of a women with Huntington's disease with excessive thirst, it was found that when the room was cooled to around 60 degrees, her thirst diminished. (Aylward, pg. 257) Her compulsive thirst was apparently a reaction to atheling of being hot. In a colder environment the thirst abated. Hallucinations (Hayden, pg. 165) Hallucinations can vary between benign misperceptions of reality to horrifying experiences that have no basis in reality. They can involve sounds (especially voices), visions, olfactory (smells), gustatory (taste) and tactile (feeling of being touched). An example of a benign tactile hallucination is that of a patient who feels that the chorea ohio legs is caused by ghosts.
A severe frightening visual hallucination could be the vision a yawning mouth with bloody teeth. People with Huntington's Disease may often have benign, or non-bothersome (to them) hallucinations. For example, a patient may stare officio space and laugh at something that appears to be just in front of them. (Lieblich, pg. 65) Treatment for this type of problem may be as simple as teaching the caregiver not tobe upset by the laughter. In the example about the ghosts moving a patient s legs, convincing him to avoid frightening movies and television shows may be what is needed. (Liss, pg. 76) Paranoia can be associated with hallucinations or even trigger hallucinations. One patient, who was in a nursing home, became paranoid that people were trying to kill him, when the nurse placed a series of terminal patients as his roommates. (Lieblich, pg. 106) When he was matched with a roommate who more closely matched his age and general health the paranoia diminished. In another example of a patient who thought his things were being stolen, the spouse of this patient taught him to orient himself by looking at all four corners of his room upon awakening and labeling where his clothing and shoes should go.
By training him to place his possessions in the same place every day, they were able to decrease his misperception that people were stealing his shoes, when in fact had not put them away where they belonged. (Aylward, pg. 255) Treatment At present there is no cure for HD. (Berkon, pg. 1498) Even though the HD general located, the function of the gene remains elusive. Scientists continue their quest to unravel the mystery. While the future holds the promise for improved treatment options, current treatment remains symptomatic. (Goodman, pg. 243) The best medication may often be no medication as there may be unwanted side effects; however, there are medications that may be used when necessary to control symptoms such as chorea, hallucinations, anxiety and irritability. Environmental modifications and attention torrents that trigger problem behavior may prove more beneficial in the long run. (Hayden, pg. 170) When medications are used, frequent assessment is necessary to evaluate tended for continued use and possible side effects.
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